Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature.

Molecular genetics & genomic medicine - 1 Dec 2020

Meissner Laura E, Macnamara Ellen F, D'Souza Precilla, Yang John, Vezina Gilbert, Ferreira Carlos R, Zein Wadih M, Tifft Cynthia J, Adams David R

Abstract excerpt

BACKGROUND: DYRK1A-Related Intellectual Disability Syndrome is a rare autosomal dominant condition characterized by intellectual disability, speech and language delays, microcephaly, facial dysmorphism, and feeding difficulties. Affected individuals represent simplex cases that result from de novo heterozygous pathogenic variants in DYRK1A (OMIM 614104), or chromosomal structural rearrangements involving the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child, Preschool
Share to Dyrk Kinases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eye Abnormalities

Share to Intellectual Disability

Share to Microcephaly

Share to Protein Serine-Threonine Kinases

Share to Protein-Tyrosine Kinases

Share to Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 33159716
DOI: 10.1002/mgg3.1544
PMCID: PMC7767569

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature.PMID 33159716Read ↗

Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literatureSemantic proximity Read ↗

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.Semantic proximity Read ↗

The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.Semantic proximity Read ↗

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.Semantic proximity Read ↗

Novel Causative Variants in DYRK1A, KARS, and KAT6A Associated with Intellectual Disability and Additional Phenotypic FeaturesSemantic proximity Read ↗

DYRK1A mutations in two unrelated patients.Semantic proximity Read ↗

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tractSemantic proximity Read ↗

Phenotypical and Genotypical Expansion of Autosomal-Dominant KDM1A -Related Neurodevelopmental Disorder Spectrum: A Case Report.Semantic proximity Read ↗

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.Semantic proximity Read ↗

[Clinical and genetic analysis of a child with mental retardation autosomal dominant 7].Semantic proximity Read ↗

Ocular Phenotype Associated with DYRK1A VariantsSemantic proximity Read ↗

Clinical phenotype of ASD-associated DYRK1A haploinsufficiency.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.